A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6793996



Internal ID10200509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:179160833..179166083hg38UCSC Ensembl
Outerchr3:178878621..178883871hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg385251
hg195251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726256
Supporting Variants
SamplesSSM071
Known GenesPIK3CA
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6793996
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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